学因网基因：CHN1；
与CHN1基因相关的CHPO中文疾病症状表型：感音神经性耳聋,小头畸形,隐性脊柱裂,桡骨缺如,全面发育迟缓,拇指不发育或发育低下,心血管系统形态异常,肛肠异常,短指畸形综合征,轴前多指急性,眼睑裂狭小,后发际低,耳前皮赘,虹膜基质发育不全,内听道狭窄,上睑下垂,癫痫发作,弱视,虹膜缺损,先天性手指屈曲,虹膜异色,斑片状毛发色素减退,斜头畸形,宽鼻梁,斜视,下唇唇红外翻,动眼神经麻痹,视盘发育不良,眼球震颤,马蹄内翻足,颈蹼,短颈,不规则色素沉着,面部不对称,椎体分节和融合异常,鼻孔前翻,眼睛深陷,三指节拇指,外耳道狭窄,异位肾,小下颌畸形,短睑裂,皮肤色素减退斑,桡骨发育低下,瞳孔异常,椎体形态异常,小角膜,腭裂,外耳畸形,肌萎缩,眼睑痉挛,脉络膜视网膜缺损,无虹膜；
与CHN1基因相关的HPO英文疾病症状表型：Sensorineural hearing impairment,Microcephaly,Spina bifida occulta,Absent radius,Global developmental delay,Aplasia/Hypoplasia of the thumb,Abnormality of cardiovascular system morphology,Anorectal anomaly,Brachydactyly,Preaxial hand polydactyly,Blepharophimosis,Low posterior hairline,Preauricular skin tag,Hypoplastic iris stroma,Narrow internal auditory canal,Ptosis,Seizures,Amblyopia,Iris coloboma,Camptodactyly,Central heterochromia,Patchy hypopigmentation of hair,Plagiocephaly,Wide nasal bridge,Strabismus,Everted lower lip vermilion,Oculomotor nerve palsy,Optic disc hypoplasia,Nystagmus,Talipes equinovarus,Webbed neck,Short neck,Irregular hyperpigmentation,Facial asymmetry,Abnormal vertebral segmentation and fusion,Anteverted nares,Deeply set eye,Triphalangeal thumb,Stenosis of the external auditory canal,Ectopic kidney,Micrognathia,Short palpebral fissure,Hypopigmented skin patches,Hypoplasia of the radius,Abnormal pupil morphology,Abnormal form of the vertebral bodies,Microcornea,Cleft palate,External ear malformation,Skeletal muscle atrophy,Blepharospasm,Chorioretinal coloboma,Aniridia；
HPO相关编号:HP:0000407,HP:0000252,HP:0003298,HP:0003974,HP:0001263,HP:0009601,HP:0030680,HP:0012732,HP:0001156,HP:0001177,HP:0000581,HP:0002162,HP:0000384,HP:0007990,HP:0011386,HP:0000508,HP:0001250,HP:0000646,HP:0000612,HP:0012385,HP:0007818,HP:0011365,HP:0001357,HP:0000431,HP:0000486,HP:0000232,HP:0012246,HP:0007766,HP:0000639,HP:0001762,HP:0000465,HP:0000470,HP:0007400,HP:0000324,HP:0005640,HP:0000463,HP:0000490,HP:0001199,HP:0000402,HP:0000086,HP:0000347,HP:0012745,HP:0001053,HP:0002984,HP:0000615,HP:0003312,HP:0000482,HP:0000175,HP:0008572,HP:0003202,HP:0000643,HP:0000567,HP:0000526；
相关病症数据库编号：ORPHA:233；
相关病症中文名：；
相关病症英文名：；
*遗传方式：；
* 遗传方式介绍：AD：常染色体显性遗传；AR：常染色体隐性遗传；XLD：X-连锁显性遗传；XLR：X-连锁隐性遗传；DD：双基因显性遗传；DR：双基因隐性遗传；Mi：线粒体遗传。
已知的研究表明：该种基因CHN1往往会有以下的表型：感音神经性耳聋,小头畸形,隐性脊柱裂,桡骨缺如,全面发育迟缓,拇指不发育或发育低下,心血管系统形态异常,肛肠异常,短指畸形综合征,轴前多指急性,眼睑裂狭小,后发际低,耳前皮赘,虹膜基质发育不全,内听道狭窄,上睑下垂,癫痫发作,弱视,虹膜缺损,先天性手指屈曲,虹膜异色,斑片状毛发色素减退,斜头畸形,宽鼻梁,斜视,下唇唇红外翻,动眼神经麻痹,视盘发育不良,眼球震颤,马蹄内翻足,颈蹼,短颈,不规则色素沉着,面部不对称,椎体分节和融合异常,鼻孔前翻,眼睛深陷,三指节拇指,外耳道狭窄,异位肾,小下颌畸形,短睑裂,皮肤色素减退斑,桡骨发育低下,瞳孔异常,椎体形态异常,小角膜,腭裂,外耳畸形,肌萎缩,眼睑痉挛,脉络膜视网膜缺损,无虹膜。以往此类疾病多以临床表型、生化检测、神经影像学检测等手段进行诊断，程序繁琐复杂，且不能从根本的致病原因上做出明确诊断。随着人类基因组计划的完成和高通量测序技术的普遍应用，利用最先进的基因检测技术，我们已可以从基因水平对该进行致病基因CHN1的基因检测，知道了携带的致病基因，才能加强辅助临床随诊，让医生的诊治更准确。
